Variant position: 858 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2224 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human DPLQPDVTGIRLLSLGAGEF KSQEHAKHKGPKVERDQAAKH
Mouse NP-QSNITMVYLLPLGPKGS GNREQDKPKTIKTGRPHMMKH
Pig NPLQSVITGISLLPFGTEGF RNREHPKHKRFKAGRDQAAKH
Bovine DHPLSDVTGVSLLPFGT-GF KNRKPAKHQRFQVGRGQAAKH
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
29 – 2224 Coagulation factor V
738 – 1573 Activation peptide (connecting region)
692 – 1573 B
859 – 859 Phosphoserine; by FAM20C
Complete cDNA and derived amino acid sequence of human factor V.
Jenny R.J.; Pittman D.D.; Toole J.J.; Kriz R.W.; Aldape R.A.; Hewick R.M.; Kaufman R.J.; Mann K.G.;
Proc. Natl. Acad. Sci. U.S.A. 84:4846-4850(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PROTEOLYTIC CLEAVAGE AT ARG-737; ARG-1046 AND ARG-1573 BY THROMBIN; VARIANTS ARG-858; ARG-865; GLU-925; PHE-1397 AND VAL-1764;
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT THPH2 GLN-534; VARIANTS SER-15; HIS-107; THR-413; LYS-513; SER-809; THR-817; ARG-858; ARG-865; SER-915; GLU-925; SER-969; LEU-980; GLN-1146; ILE-1285; SER-1404; ALA-1530 AND THR-2148;
Cloning of cDNAs coding for the heavy chain region and connecting region of human factor V, a blood coagulation factor with four types of internal repeats.
Kane W.H.; Ichinose A.; Hagen F.S.; Davie E.W.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1600; VARIANTS ARG-858; ARG-865; GLU-925 AND ILE-1285;
Studies on hereditary deficiency of coagulation factor V.
Xie F.; Cheng F.; Zhu X.;
Zhonghua Xue Ye Xue Za Zhi 22:453-456(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 660-1598; VARIANTS ARG-858; ARG-865; GLU-925 AND PHE-1397;
Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANT THPH2 GLN-534; VARIANTS HIS-107; THR-413; LYS-513; SER-809; THR-817; ARG-858; ARG-865; GLU-925; GLN-1146; ALA-1530; SER-1685; VAL-1749; VAL-1764; ILE-1820 AND GLY-2222;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.